A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6514377



Internal ID20887730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1788622..1850049hg38UCSC Ensembl
chr17:1691916..1753343hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3861428
hg1961428
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2972n223
Supporting Variantsnssv18189603
Samples
Known GenesRPA1, SMYD4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6514377
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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